The Rare Reality – An insight into the patient and family experience of rare disease: report launch

Following the publication of the UK Strategy for Rare Diseases in 2013, rare conditions are now higher up the agenda for clinicians, policymakers and the media than they have ever been. We have carried out a survey to get an up to date picture of patient experiences to see if anything has changed since our first report on patient experiences in 2010. The report launched yesterday at our AGM, at the Royal College of Paediatrics and Child Health. It surveys 1200 patients, to monitor the early impacts of the strategy, and this heightened awareness of rare disease.

The findings of the report show that very little has changed for rare disease patients in the last 5 years. Patients are still experiencing difficulties in diagnosis, accessing information about their condition, receiving appropriate coordinated care, accessing treatments and finding out about research. The report highlights the reality of rare disease patients, putting an emphasis on their experiences in their everyday lives. The reality is that changes in the lives of patients, as a result of awareness, are not living up to our expectations. This makes the implementation stage of the UK Strategy for Rare Diseases even more important.

Key findings of the report include:

  • Patients and families are given very little information about their condition. 70% of respondents did not feel they were provided with sufficient information following diagnosis.
  • Patients are frequently left to research their condition alone. Patients often become an expert in their own condition and are often left to inform and educate the medical professionals they encounter.
  • Patients face significant delays on their journey to secure a diagnosis. 45% of all respondents waited over a year.
  • The majority of patients (52%) receive at least one incorrect diagnosis/diagnoses, and visit numerous doctors, before they receive a final diagnosis. 37% receive 3 or more incorrect diagnosis.
  • Patients can experience issues in persuading medical professionals to believe their symptoms and describe how their condition is initially written off as ‘psychological’ or, parents are described as ‘neurotic’.

‘Progress is being made in policy – but this needs to be implemented to positively impact patients on the ground. Any positive developments for rare disease patients do not appear to be uniform across the countries and regions, or between different rare conditions. We need to ensure that all patients have fair access to appropriate care and treatment for their rare disease – no one should be left behind because they are ‘rare’.The challenge now is to maintain progress were it has been made and encourage progress where it has been slower, to ensure the promise of the UK Strategy for Rare Diseases becomes reality in the years ahead (so that, hopefully, in 2020 we can report more positive changes).’ Alastair Kent OBE, Chair, Rare Disease UK

Click here to read the report in full.

For a Storify summary of the AGM please click here.

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